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Selected AbstractsThe UMD-LDLR database: additions to the software and 490 new entries to the database,HUMAN MUTATION, Issue 2 2002Ludovic Villéger Abstract Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), one of the most frequent hereditary dominant disorders. The protein defect was identified in 1973, the gene was localized by in situ hybridization in 1985, and since, a growing number of mutations have been reported. The UMD-LDLR database is customized software that has been developed to list all mutations, and also to provide means to analyze them at the nucleotide and protein levels. The database has been recently modified to fulfill the recommendations of the Nomenclature Working Group for human gene mutations. However, in the current version, both the nomenclature and usual LDLR gene mutation names are reported since the latter are more commonly used. The software has also been modified to accommodate the splicing mutations and alleles that carry two nucleotide variations. The current version of UMD-LDLR contains 840 entries, of which 490 are new entries. Point mutations account for 90% of all mutations in the LDLR gene; the remaining are mostly major rearrangements, due to the presence of Alu sequences. Three new routines have been implemented in the software, thus giving users access to 13 sorting tools. In addition to the database, a Web site containing information about polymorphisms, major rearrangements, and promoter mutations is available. Both are accessible to the scientific community (www.umd.necker.fr) and should help groups working on LDLR to check their mutations and identify new ones, and greatly facilitate the understanding of functional classes/genotype relationships and of genotype/phenotype correlations. © 2002 Wiley-Liss, Inc. [source] Factor Structure and Concurrent Validity of the Obsessive Compulsive Drinking Scale in a Group of Alcohol-Dependent Subjects of Mexico CityALCOHOLISM, Issue 7 2009Marta Cordero Background:, Obsessive thoughts and compulsive drinking behaviors have been proposed as key factors associated with the loss of control over alcohol consumption experienced by alcohol-dependent patients. The self-report 14-item Obsessive Compulsive Drinking Scale (OCDS; Anton et al., 1995) was designed in order to rate these features. Methods:, A Spanish-translated version of the OCDS was applied to a group of 159 alcohol-dependent subjects while in abstinence, and data were analyzed in order to evaluate the factor structure and concurrent validity of the scale. Results:, Several solutions were explored after applying the principal factor analysis to the data. The most plausible result was obtained after excluding the items on quantity and frequency of drinking. This model explaining 56.9% of the variance included 2 factors: obsessive thoughts related to drinking and interference/behaviors related to drinking. Additionally, OCDS scores were significantly correlated with measures for the Alcohol Dependence Scale, number of DSM-IV criteria met for alcohol dependence as well as the number of days in a week engaged in heavy drinking, indicating concurrent validity. Conclusions:, Our results support the use of OCDS as a valid self-rated instrument that can be broadly applied in research and treatment settings. However, its current version includes questions that may not represent the core concept of craving. The abridged 12-item version of the scale (excluding the items on drinking habits) maintains good psychometrics features and seems to be adequate when different cognitive and behavioral dimensions are explored. [source] An efficient use of the WATERGATE W5 sequence for observing a ligand binding with a protein receptorMAGNETIC RESONANCE IN CHEMISTRY, Issue 9 2008Kazuo Furihata Abstract An efficient pulse sequence for observing a ligand binding with a receptor has been developed by incorporating the WATERGATE W5 sequence. In the conventional water ligand observed via gradient spectroscopy (WaterLOGSY) techniques, the water resonance is selectively excited using,e.g. the double-pulsed field gradient spin,echo (DPFGSE) sequence at the initial portion of pulse sequence. In the current version, the modified WATERGATE W5 sequence is incorporated at the initial portion of the pulse sequence, and the resonance at the water frequency can be selectively reserved by the modified WATERGATE W5 sequence. The efficiency of ligand-observed NMR screening techniques has been demonstrated using the human serum albumin (HSA),tryptophan complex. Copyright © 2008 John Wiley & Sons, Ltd. [source] Computations of eigenpair subsets with the MRRR algorithm,,NUMERICAL LINEAR ALGEBRA WITH APPLICATIONS, Issue 8 2006Osni A. Marques Abstract The main advantage of inverse iteration over the QR algorithm and Divide & Conquer for the symmetric tridiagonal eigenproblem is that subsets of eigenpairs can be computed at reduced cost. The MRRR algorithm (MRRR=multiple relatively robust representations) is a clever variant of inverse iteration without the need for reorthogonalization. STEGR, the current version of MRRR in LAPACK 3.0, does not allow for subset computations. The next release of STEGR is designed to compute a (sub-)set of k eigenpairs with ,,(kn) operations. Because of the special way in which eigenvectors are computed, MRRR subset computations are more complicated than when using inverse iteration. Unlike the latter, MRRR sometimes cannot ignore the unwanted part of the spectrum. We describe the problems with what we call ,false singletons'. These are eigenvalues that appear to be isolated with respect to the wanted eigenvalues but in fact belong to a tight cluster of unwanted eigenvalues. This paper analyses these complications and ways to deal with them. Published in 2006 by John Wiley & Sons, Ltd. [source] BALBES: a molecular-replacement pipelineACTA CRYSTALLOGRAPHICA SECTION D, Issue 1 2008Fei Long The number of macromolecular structures solved and deposited in the Protein Data Bank (PDB) is higher than 40,000. Using this information in macromolecular crystallography (MX) should in principle increase the efficiency of MX structure solution. This paper describes a molecular-replacement pipeline, BALBES, that makes extensive use of this repository. It uses a reorganized database taken from the PDB with multimeric as well as domain organization. A system manager written in Python controls the workflow of the process. Testing the current version of the pipeline using entries from the PDB has shown that this approach has huge potential and that around 75% of structures can be solved automatically without user intervention. [source] Der Beitrag von Profilblechdecken zur passiven KühlungBAUPHYSIK, Issue 2 2009Bernd Döring Dr.-Ing. Berechnungsverfahren; Energieeinsparung; Wärme Abstract Die Ausnutzung der thermischen Speichermasse eines Gebäudes zur Beeinflussung der Raumtemperaturen bzw. zur Reduzierung des Energieverbrauchs war in der Vergangenheit Gegenstand zahlreicher Forschungsvorhaben. Um den Einfluss der Speichermasse ermitteln zu können, werden häufig thermische Gebäudesimulationsprogramme eingesetzt, aber auch die aktuelle Fassung von DIN V 18599 berücksichtigt die Wirkung der Wärmekapazität der raumumfassenden Flächen. Sowohl bei Anwendung von DIN V 18599 als auch bei der Gebäudesimulation geht man dabei von einer eindimensionalen Schichtenfolge für Wände und Decken aus. Es gibt jedoch Bauteile, wie z. B. Profilblechdecken, bei denen diese Annahme nicht zutreffend ist. In diesem Bericht werden nun über die Auswertung dynamischer FEM-Berechnungen für inhomogene Deckenaufbauten Ersatzgrößen bestimmt, so dass die Definition einer thermisch äquivalenten Decke als eindimensionales Modell möglich ist. Für ausgewählte Beispiele wird die Wirksamkeit dieser Decken hinsichtlich ihrer Wärmeaufnahme und -abgabe untersucht. The potential of profiled steel sheet deck systems in reference to passive cooling strategies. The use of the thermal inertia of building components to improve the indoor temperature and to reduce the energy consumption was covered in various research projects in the past. Generally, thermal building simulation tools (TRNSYS, TAS, e.g.) are used for the assessment of the effect of thermal inertia, and also the current version of the standard DIN V 18599 takes the effect of the heat capacity of the affected surfaces. Both, DIN V 18599 and thermal building simulation tools, assume a one-dimensional characterization of walls and flooring systems, that means they are assembled based on plane layers. This approach is not valid for inhomogeneous components like profiled steel sheet deck systems. In this report thermal equivalent values for such elements are developed, based on the analysis of transient Finite Element Calculations (FEM), thus the one-dimensional are suitable using these equivalent properties. For a selection of available profiles the effect of such deck systems referring heat-intake and heat-disposal was investigated. [source] The Conditional Analysis of Dispositions and the Intrinsic Dispositions ThesisPHILOSOPHY AND PHENOMENOLOGICAL RESEARCH, Issue 3 2009SUNGHO CHOI The idea that dispositions are an intrinsic matter has been popular among contemporary philosophers of dispositions. In this paper I will first state this idea as exactly as possible. I will then examine whether it poses any threat to the two current versions of the conditional analysis of dispositions, namely, the simple and reformed conditional analysis of dispositions. The upshot is that the intrinsic nature of dispositions, when properly understood, doesn't spell trouble for either of the two versions of the conditional analysis of dispositions. Along the way, I will propose an extensionally correct and practically useful criterion for identifying nomically intrinsic dispositions and criticize one objection raised by Lewis against the simple conditional analysis of dispositions. [source] Voluntariness, intention, and the defence of mental disorder: toward a rational approach,BEHAVIORAL SCIENCES & THE LAW, Issue 5 2003Bernadette McSherry B.A.(Hons), D.Jur., Grad.Dip.Psych., LL.B.(Hons), LL.M. This article addresses how mental disorder may be used in common law countries to negate the requirements of voluntariness and intention in serious criminal offences as well as to provide the basis for current versions of the insanity defence. The notion that mental disorder can cause conduct to become completely involuntary or unintentional is questionable, given current thinking in the behavioral sciences. This article argues that different forms of mental disorder should be subsumed within a separate defence of mental disorder. Providing that a range of dispositional options is available, the law in this complex area would be simplified and brought into line with current psychological notions of goal-directed behavior. Copyright © 2003 John Wiley & Sons, Ltd. [source] Human papillomavirus infection and the primary and secondary prevention of cervical cancer,,§CANCER, Issue S7 2008Douglas R. Lowy MD Abstract A wealth of evidence has led to the conclusion that virtually all cases of cervical cancer are attributable to persistent infection by a subset of human papillomavirus (HPV) types, especially HPV type 16 (HPV-16) and HPV-18. These HPV types also cause a proportion of other cancers, including vulvar, vaginal, anal, penile, and oropharyngeal cancers. Although cervical cancer screening, primarily with the Papanicolaou (Pap) smear, has reduced the incidence of this cancer in industrialized countries, cervical cancer remains the second most common cause of death from cancer in women worldwide, because the developing world has lacked the resources for widespread, high-quality screening. In addition to advances in Pap smear technology, the identification of HPV as the etiologic agent has produced 2 recent advances that may have a major impact on approaches to reduce the incidence of this disease. The first is the development of a preventive vaccine, the current versions of which appear to prevent close to 100% of persistent genital infection and disease caused by HPV-16 and HPV-18; future second-generation vaccines may be able to protect against oncogenic infections by a broader array of HPV types. The second is the incorporation of HPV testing into screening programs. In women aged >30 years, HPV testing can identify high-grade cervical intraepithelial neoplasia earlier than Pap smears with acceptable rates of specificity. These results, together with the high sensitivity of HPV testing, suggest that such testing could permit increased intervals for screening. An inexpensive HPV test in development, if successful, may be incorporated as part of an economically viable ,screen-and-treat' approach in the developing world. The manner in which vaccination and screening programs are integrated will need to be considered carefully so that they are efficient in reducing theoverall incidence of cervical cancer. Cancer 2008;113(7 suppl):1980,93. Published 2008 by the American Cancer Society. [source] | |||||||||||||